Canonical Allele Identifier: PA2741867115
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2751645
ClinVar RCV Id: RCV003495702

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Lys185del
CA2697551521
NM_001354304.2:c.552_554del